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Review
. 2022 Jun;24(6):206-212.
doi: 10.1007/s11926-022-01073-7. Epub 2022 Apr 18.

Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene

Ezgi Deniz Batu #  1 , Ozge Basaran #  1 , Yelda Bilginer  1 , Seza Ozen  2
Affiliations
Review

Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene

Ezgi Deniz Batu et al. Curr Rheumatol Rep. 2022 Jun.

Abstract

Purpose of review: To provide an up-to-date approach to diagnosis and management of FMF patients.

Recent findings: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease and prototype monogenic autoinflammatory recurrent fever syndrome. Although it is one of the well-known autoinflammatory disorders, evaluations in the etiopathogenesis and genetics of the disease have shown that FMF is more complex than previously known. Since the number of reported MEFV variants increased, evaluating the genetic test results has become more challenging. Here, we suggest a roadmap for clinicians to facilitate their decisions regarding diagnosis, treatment, and follow-up in FMF patients with different genotype-phenotype combinations. The correct interpretation of genetic test results is crucial for timely diagnosis, appropriate treatment, and follow-up of FMF patients.

Keywords: Diagnosis; Familial Mediterranean fever; Genetic; MEFV; Treatment.

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References

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance
    1. Ozen S, Batu ED. The myths we believed in familial Mediterranean fever: what have we learned in the past years? Semin Immunopathol. 2015;37:363–9. - PubMed - DOI
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    1. •• Park YH, Remmers EF, Lee W, et al. Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis. Nat Immunol. 2020;21(8):857–67. This is the study that explained how MEFV mutations could confer an increased resistance against Yersinia pestis. - PubMed - PMC - DOI
    1. • Masters SL, Lagou V, Jeru I, et al. Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. Sci Transl Med. 2016;8:332ra345. This study described the phenotype different than FMF associated with MEFV mutations. - DOI
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